A Strategy for Integrating the Inborn Errors of Metabolism Screening with the Congenital Adrenal Hyperplasia Screening in a Single FIA/LC-MS/MS Measurement
نویسنده
چکیده
The Inborn Errors of Metabolism (IEM) screening protocol, using LC/MS/MS for the analysis of amino acids (AA) and acylcarnitines (AC), is now widely used. Despite its broad acceptance, there is an ongoing debate regarding the need for the derivatization step described in the original sample preparation procedure. The derivatization by butylation hampers the simplicity of the assay and some users have opted to settle for a reduction in sensitivity, resulting from an “underivatized” approach, in exchange for a simplified process.
منابع مشابه
Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.
OBJECTIVES AND METHOD The Medical Advisory Secretariat undertook a review of the evidence on the effectiveness and cost-effectiveness of using tandem mass spectrometer [MS/MS] for the neonatal screening of inborn errors of metabolism [IEM]. The review is based on two systematic reviews commissioned by the National Health Services (United Kingdom) and relevant research literature that was publis...
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BACKGROUND Developments in screening technology and increased understanding of the natural history and treatment of inborn errors of metabolism (IEMs) have produced pressure to extend neonatal screening programmes. This review aims to assess the evidence for the appropriateness of such programmes. METHODS A formal systematic literature review was conducted. Exclusion and inclusion criteria we...
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